catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1327G>T
Protein name NP_000483.3:p.(Asp443Tyr)
Genomic name (hg19) chr7:g.117188812G>T    UCSC    gnomAD
#Exon/intron exon 10
Legacy Name D443Y
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CFTR-RD-causing
WT sequence ACTTCTTGGTACTCCTGTCCTGAAA G ATATTAATTTCAAGATAGAAAGAGG
Mutant sequence ACTTCTTGGTACTCCTGTCCTGAAA T ATATTAATTTCAAGATAGAAAGAGG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -

External sources:
dbSNP
no rs

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
present not performed


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.01417 0.08 0.901
VUS1 VUS4 VUS4 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

71 individuals reported in CFTR-France







Go to CFTRare
VLMCHUUM